Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4695201019 | Amish nemaline myopathy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4695202014 | Amish nemaline myopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13591041000146116 | Amish-gerelateerde 'rod body'-myopathie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13591051000146118 | nemalinemyopathie type Amish (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13591061000146115 | nemalinemyopathie type Amish | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4695203016 | A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Amish nemaline myopathy (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Amish nemaline myopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Amish nemaline myopathy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Amish nemaline myopathy (disorder) | Is a | Nemaline myopathy, early onset type | true | Inferred relationship | Some | ||
| Amish nemaline myopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Amish nemaline myopathy (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some | ||
| Amish nemaline myopathy (disorder) | Interprets | Movement | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR